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growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene.
Uniprot Description An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.
Mondo Term and Equivalent IDs
MONDO:0014261: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111484
OMIM:615578
Orphanet:391348
UMLS:C3810001
MONDO:0014261
High level summary of knowledge for a disease, including descriptions and datasource references.